EPP LIGHT EU
Research type
Research Study
Full title
EPP L.I.G.H.T. (Life Impact and Genetic Health Trajectory) Study: A CROSS-SECTIONAL ONLINE SURVEY OF ADULT AND ADOLESCENT PARTICIPANTS WITH ERYTHROPOIETIC PROTOPORPHYRIA (EPP) IN EUROPE.
IRAS ID
351322
Contact name
Mathieu Loiseau
Contact email
Sponsor organisation
Disc Medicine
Duration of Study in the UK
0 years, 3 months, 4 days
Research summary
Research Summary
Erythropoietic Protoporphyria (EPP) is a rare, inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH); less commonly it is caused by a gain of function mutation in the ALAS2 enzyme X- linked Protoporphyria (XLP) is clinically indistinguishable from EPP and caused by increased activity of the enzyme aminolevulinic acid synthase (ALAS2). Collectively these are both referred to as EPP. The primary sign of EPP is hypersensitivity of the skin to sunlight and to some types of artificial light (e.g., fluorescent light). Symptoms after exposure to light include burning, itching and pain, on exposed areas of the skin. Affected individuals may also experience edema and/or redness or inflammation of the skin. The hands, arms, and face are most commonly affected. EPP affects males and females similarly and is estimated to occur in about 1 in about 74,300 individuals. The onset of skin symptoms generally occurs in infancy; however, in some cases, onset may not occur until adolescence or adulthood.
This cross-sectional, online survey study will be used to describe the burden associated with EPP in terms of health-related quality of life (HRQoL), symptoms and healthcare resource utilization (HCU), and preference for treatment.Summary of Results
The study included 101 adults (mean age = 46, 67% female) and 10 adolescents (mean age = 14, 50% female). Most participants (67%) had their diagnosis confirmed by genetic testing, and 51% took ≥5 years to receive a diagnosis.
Most participants (78%) “usually” or “always” worry about experiencing warning symptoms of a light reaction; 27% experience warning symptoms after spending ≤10 minutes in the sun, with most
(86%) having warning symptoms ≥1 time in the past 3 months. The most common warning symptoms reported were sensitivity to heat or cold, sensitivity to touch, feelings of warmth, burning and itching. Other than itching, ≥50% reported the severity as “moderate” or “severe.” Seventy-eight percent reported pain from indirect sun at least “sometimes.” Most (64%) experienced ≥1 light reaction in the past 12 months, with 69% experiencing pain after <30 minutes in direct sun.
A higher percentage of individuals in Europe experienced warning symptoms in the past 3 months compared with NA participants (86% vs 80%). However, a higher percentage of individuals in NA experienced > 1 phototoxic reaction in the past 12 months (71% vs 64%), and it took longer (5.4 versus 5.0
days) for all symptoms to improve. Pain severity was comparable.
Adults with EPP in Europe experience much less satisfaction with participation in social roles and activities
(SRA) and much greater social isolation (SI) compared to the general population. Over 70% of adults reported feeling isolated, frustrated, or lonely while coping with their EPP symptoms, and 53% reported their overall quality of life was at least “somewhat” impacted in the past 7 days due to EPP. Results were slightly worse in North America (NA) than Europe for SRA and comparable for SI.
Those employed in Europe (n=74, 76%) missed on average 2.4 hours of work in the past month versus 4.4 hours in NA. Those attending school in Europe (n=15, 15%) missed 4.6 hours of school in the past month due to EPP, similar to North America (4.2 hours).REC name
Wales REC 3
REC reference
25/WA/0165
Date of REC Opinion
30 May 2025
REC opinion
Further Information Favourable Opinion